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Category: genetics

Genetic testing trifecta predicts risk of sudden cardiac death and arrhythmia

The study involving 1,119 participants will be published in Cell Reports Medicine.

Currently, genetic testing is divided into three distinct approaches:

In a new study, scientists have developed a more precise genetic risk score to determine whether a person is likely to develop arrhythmia, an irregular heartbeat that can lead to serious conditions such as atrial fibrillation (AFib) or sudden cardiac death.

Their approach not only improves the accuracy of heart disease risk prediction but also offers a comprehensive framework for genetic testing that, according to the scientists, could be applied to anything, including other complex, genetically influenced diseases like cancer, Parkinson’s Disease and autism.

“It’s a very cool approach in which we are combining rare gene variants with common gene variants and then adding in non-coding genome information. To our knowledge, no one has used this comprehensive approach before, so it’s really a roadmap of how to do that,” said co-corresponding author.

Cell nucleus shape may influence cancer treatment success

Cancer cells with a cell nucleus that is easily deformed are more sensitive to drugs that damage DNA. These are the findings of a new study by researchers at Linköping University in Sweden. The results may also explain why combining certain cancer drugs can produce the opposite of the intended effect. The study has been published in the journal Nature Communications.

A few years ago, a new type of drug was introduced that exploits deficiencies in cancer cells’ ability to repair damage to their DNA. These drugs, called PARP1 inhibitors, are used against cancers that have mutations in genes involved in DNA repair, such as the breast cancer gene 1 (BRCA1).

This gene has such a central role in the cell’s ability to repair serious DNA damage that mutations in it greatly increase the risk of developing cancer, often at a young age. The risk is so high that some women with a mutated BRCA1 gene choose to have their breasts and ovaries surgically removed to prevent cancer.

Sugars, ‘gum,’ stardust found in NASA’s asteroid Bennu samples

The asteroid Bennu continues to provide new clues to scientists’ biggest questions about the formation of the early solar system and the origins of life. As part of the ongoing study of pristine samples delivered to Earth by NASA’s OSIRIS-REx (Origins, Spectral Interpretation, Resource Identification, and Security-Regolith Explorer) spacecraft, three new papers published Tuesday by the journals Nature Geosciences and Nature Astronomy present remarkable discoveries: sugars essential for biology, a gum-like substance not seen before in astromaterials, and an unexpectedly high abundance of dust produced by supernova explosions.

Scientists led by Yoshihiro Furukawa of Tohoku University in Japan found sugars essential for biology on Earth in the Bennu samples, detailing their findings in the journal Nature Geoscience. The five-carbon sugar ribose and, for the first time in an extraterrestrial sample, six-carbon glucose were found. Although these sugars are not evidence of life, their detection, along with previous detections of amino acids, nucleobases, and carboxylic acids in Bennu samples, show building blocks of biological molecules were widespread throughout the solar system.

For life on Earth, the sugars deoxyribose and ribose are key building blocks of DNA and RNA, respectively. DNA is the primary carrier of genetic information in cells. RNA performs numerous functions, and life as we know it could not exist without it. Ribose in RNA is used in the molecule’s sugar-phosphate “backbone” that connects a string of information-carrying nucleobases.

Impaired touch perception in Alzheimer’s associated with Tau pathology and lower cognitive scores

Alzheimer’s disease (AD) is a neurodegenerative condition characterized by the progressive deterioration of brain cells, which prompts memory loss, a decline in mental functions and behavioral changes. Estimates suggest that this disease affects approximately 1 in 14 people who are more than 65 years old and over 35% of people who are over 85 years old.

Due to its prevalence and debilitating nature, AD has become the focus of numerous neuroscience and medical studies. Most of these studies examined brain regions and neurogenetic processes that appear to be different in people diagnosed with AD.

Recently, some neuroscientists gathered evidence suggesting that parts of the brain that support somatosensory processing (i.e., the interpretation of tactile stimuli, pressure and the body’s position in space), are also affected in individuals with AD. Yet the extent to which these tactile sensation-related deficits play a role in the cognitive decline typical of AD has not yet been determined.

Genetics of Aging and Life Span: Molecular Mechanisms and Intervention Prospects

Abstract The review examines modern advances in the genetics of aging and life span. The key molecular mechanisms regulating aging processes at the genetic level are analyzed, including signaling pathways and longevity genes identified in studies on model organisms and through genome analysis of long-lived species. Special attention is given to the insulin/IGF-1 signaling pathway, the role of the FOXO transcription factor, DNA repair systems, epigenetic regulation, and modulation of mTOR and AMPK kinase activity. Results of experimental studies on increasing the life span of model organisms through genetic manipulations and combined approaches are presented.

Epigenetic changes regulate gene expression, but what regulates epigenetics?

A chromosome pulled from the flowers of Arabidopsis thaliana (green and white) unspools to reveal DNA (blue) coiled around packaging-proteins called histones (purple). The direction of epigenetic changes by genetic features begins as the RIM transcription factor (pink) docks on a corresponding DNA sequence (pink). Once docked, the RIM transcription factor directs methylation machinery to tack methyl groups (orange) onto specific nearby cytosines (orange). Click here for a high-resolution image. Credit: Salk Institute.

All the cells in an organism have the exact same genetic sequence. What differs across cell types is their epigenetics—meticulously placed chemical tags that influence which genes are expressed in each cell. Mistakes or failures in epigenetic regulation can lead to severe developmental defects in plants and animals alike. This creates a puzzling question: If epigenetic changes regulate our genetics, what is regulating them?

Scientists at the Salk Institute have now used plant cells to discover that a type of epigenetic tag, called DNA methylation, can be regulated by genetic mechanisms. This new mode of plant DNA methylation targeting uses specific DNA sequences to tell the methylation machinery where to dock. Prior to this study, scientists had understood only how DNA methylation was regulated by other epigenetic features, so the discovery that genetic features can also guide DNA methylation patterns is a major paradigm shift.

Electrotherapy using injectable nanoparticles offers hope for glioblastoma treatment

Electrotherapy using injectable nanoparticles delivered directly into the tumor could pave the way for new treatment options for glioblastoma, according to a new study from Lund University in Sweden.

Glioblastoma is the most common and most aggressive form of brain tumor among adults. Even with intensive treatment, the average survival period is 15 months. The tumor has a high genetic variation with multiple mutations, which often makes it resistant to radiation therapy, chemotherapy and many targeted drugs. The prognosis for glioblastoma has not improved over the past few decades despite extensive research.

Switching risk and protective alleles improves Alzheimer’s-disease-like signatures and disruptions in mice

Alzheimer’s disease (AD) is a neurodegenerative disorder characterized by the progressive degradation of brain cells, as well as an associated decline in memory and other mental functions. Earlier research found that different forms (i.e., alleles) of a gene known as apolipoprotein E (APOE) are associated with an increased or decreased risk of developing AD.

The APOE gene can be mutated into different variants (i.e., alleles), including APOE2, APOE3 and APOE4. Past studies have linked the presence of two APOE4 alleles to a higher risk of developing AD, while two APOE2 alleles were linked to a significantly lower risk of AD.

Researchers at the University of Kentucky and other institutes genetically engineered a type of mouse that carries a genetic “switch” that can be activated with a drug and that converts the harmful APOE4 allele into the protective APOE2 allele.

Leukemia mutations in nuclear droplets!

Leukemia starts when mutations in blood-forming cells disrupt the balance between growth and differentiation. Patients with entirely different genetic changes show strikingly similar patterns of gene activity and can respond to the same drugs. What invisible thread could make so many mutations behave the same way?

The authors looked into high-resolution microscope and saw something no one expected: leukemia cell nuclei shimmered with a dozen bright dots – tiny beacons missing from healthy cells.

Those dots weren’t random. They contained large amounts of mutant leukemia proteins and drew in many normal cell proteins to coordinate activation of the leukemia program. The dots were new nuclear compartments formed by phase separation, the same physical principle that describes why oil droplets form in water. The team named this new compartment, “coordinating bodies,” or C-bodies.

Inside the nucleus, these C-bodies act like miniature control rooms, pulling together the molecules that keep leukemia genes switched on. Like drops of oil collecting on the surface of soup, they appear when the cell’s molecular ingredients reach just the right balance.

Even more surprising, cells carrying entirely different leukemia mutations formed droplets with the same behavior. Although their chemistry differs, the resulting nuclear condensates perform the same function, using the same physical playbook.

A new quantitative assay confirmed it. These droplets are biophysically indistinguishable – like soups made from different ingredients that still simmer into the same consistency. No matter which mutation started the process, each leukemia formed the same kind of C-body.

The team confirmed the finding across human cell lines, mouse models and patient samples. When they tweaked the proteins so they could no longer form these droplets – or dissolved them with drugs, the leukemia cells stopped dividing and began to mature into healthy blood cells.

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